Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. द्वारा McLaughlin, H, Sakaguchi, R, Liu, C, Igarashi, T, Pehlivan, D, Chu, K, Iyer, R, Cruz, P, Cherukuri, P, Hansen, N, Mullikin, J, Biesecker, L, Wilson, T, Ionasescu, V, Nicholson, G, Searby, C, Talbot, K, Vance, J, Züchner, S, Szigeti, K, Lupski, JR, Hou, Y, Green, E, Antonellis, A

Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. द्वारा Rainger, J, Pehlivan, D, Johansson, S, Bengani, H, Sanchez-Pulido, L, Williamson, K, Ture, M, Barker, H, Rosendahl, K, Spranger, J, Horn, D, Meynert, A, Floyd, J, Prescott, T, Anderson, C, Rainger, J, Karaca, E, Gonzaga-Jauregui, C, Jhangiani, S, Muzny, D, Seawright, A, Soares, D, Kharbanda, M, Murday, V, Finch, A

Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder द्वारा Dias, CM, Punetha, J, Zheng, C, Mazaheri, N, Rad, A, Efthymiou, S, Petersen, A, Dehghani, M, Pehlivan, D, Partlow, JN, Posey, JE, Salpietro, V, Gezdirici, A, Malamiri, RA, Menabawy, NM, Selim, LA, Mehrjardi, MY, Banu, S, Polla, DL, Yang, E, Varaghchi, J, Mitani, T, Van Beusekom, E, Najafi, M, Sedaghat, A, Keller-Ramey, J, Durham, L, Coban-Akdemir, Z, Karaca, E, Orlova, V, Schaeken, LLM, Sherafat, A, Jhangiani, SN, Stanley, V, Shariati, G, Galehdari, H, Gleeson, JG, Walsh, CA, Lupski, JR, Seiradake, E, Houlden, H, Van Bokhoven, H, Maroofian, R